Experiences with modeling composite phenotypes in the SKELETOME project

Tudor Groza, Andreas Zankl and Jane Hunter (2012). Experiences with modeling composite phenotypes in the SKELETOME project. In: Philippe Cudré-Mauroux, Jeff Heflin, Evren Sirin, Tania Tudorache, Jérôme Euzenat, Josiane Xavier Parreira, Jim Hendler, Guus Schreiber, Abraham Bernstein and Eva Blomqvist, The Semantic Web - ISWC 2012: 11th International SemanticWeb Conference proceedings, part II. 11th International Semantic Web Conference (ISWC 2012), Boston, MA, USA, (82-97). 11-15 November 2012. doi:10.1007/978-3-642-35173-0-6

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Author Tudor Groza
Andreas Zankl
Jane Hunter
Total Author Count Override 3
Title of paper Experiences with modeling composite phenotypes in the SKELETOME project
Conference name 11th International Semantic Web Conference (ISWC 2012)
Conference location Boston, MA, USA
Conference dates 11-15 November 2012
Proceedings title The Semantic Web - ISWC 2012: 11th International SemanticWeb Conference proceedings, part II   Check publisher's open access policy
Journal name Lecture Notes in Computer Science   Check publisher's open access policy
Place of Publication Heidelberg, Germany
Publisher Springer
Publication Year 2012
Sub-type Fully published paper
DOI 10.1007/978-3-642-35173-0-6
ISBN 9783642351723
9783642351730
ISSN 0302-9743
1611-3349
Editor Philippe Cudré-Mauroux
Jeff Heflin
Evren Sirin
Tania Tudorache
Jérôme Euzenat
Josiane Xavier Parreira
Jim Hendler
Guus Schreiber
Abraham Bernstein
Eva Blomqvist
Volume 7650
Start page 82
End page 97
Total pages 16
Collection year 2013
Language eng
Abstract/Summary Semantic annotation of patient data in the skeletal dysplasia domain (e.g., clinical summaries) is a challenging process due to the structural and lexical differences existing between the terms used to describe radiographic findings. In this paper we propose an ontology aimed at representing the intrinsic structure of such radiographic findings in a standard manner, in order to bridge the different lexical variations of the actual terms. Furthermore, we describe and evaluate an algorithm capable of mapping concepts of this ontology to exact or broader terms in the main phenotype ontology used in the bone dysplasia domain.
Keyword SKELOTOME project
Skeletal dysplasia
Q-Index Code E1
Q-Index Status Confirmed Code
Institutional Status UQ

 
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Created: Mon, 15 Oct 2012, 13:47:01 EST by Dr Tudor Groza on behalf of School of Information Technol and Elec Engineering